BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney.[6] RNA-sequence data from The Cancer Genome Atlas revealed that BSND was one of three genes (alongside ATP6V1G3) with high RNA expression in chRCC. Strong, diffuse expression of BSND was observed in chRCC but not in clear cell RCC or papillary RCC. Additionally, BSND expression was found to correlate with lower DNA methylation near the transcription start site, indicating the presence of epigenetic regulation. This expression reveals BSND's potential to serve as a major immunohistochemical marker for distinguishing chRCC from other forms of RCC.[7]
BSND immunohistochemistry is also pivotal in differentiating oncocytic and Warthin-like MECs in salivary gland neoplasms. Greater than 10% BSND positivity helps distinguish Warthin tumors from Warthin-like MECs and greater than 20% BSND positivity helps distinguish oncocytomas from oncocytic MECs.[8]
Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. (Nov 2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nature Genetics. 29 (3): 310–314. doi:10.1038/ng752. PMID11687798. S2CID5892001.
Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, et al. (Nov 2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–561. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID11734858. S2CID4407807.
Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, et al. (Jun 2002). "Barttin increases surface expression and changes current properties of ClC-K channels". Pflügers Archiv: European Journal of Physiology. 444 (3): 411–418. doi:10.1007/s00424-002-0819-8. PMID12111250. S2CID8546107.
Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, et al. (Feb 2003). "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin". The Journal of Clinical Endocrinology and Metabolism. 88 (2): 781–786. doi:10.1210/jc.2002-021398. PMID12574213. S2CID28041186.
Hayama A, Rai T, Sasaki S, Uchida S (Jun 2003). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". Histochemistry and Cell Biology. 119 (6): 485–493. doi:10.1007/s00418-003-0535-2. PMID12761627. S2CID24080298.
Garcia-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin F (May 2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families". Pediatric Nephrology. 21 (5). Berlin, Germany: 643–648. doi:10.1007/s00467-006-0062-1. PMID16572343. S2CID24786634.
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